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Items: 10

1.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
2.

Cleft soft palate

Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. [from ORDO]

MedGen UID:
98471
Concept ID:
C0432098
Congenital Abnormality
3.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
4.

Musculoskeletal system disease

A non-neoplastic or neoplastic disorder that affects muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
5.

Mouth disease

A non-neoplastic or neoplastic disorder that affects the oral cavity or the lips. Representative examples include inflammatory disorders, precancerous conditions, and carcinomas. [from NCI]

MedGen UID:
6448
Concept ID:
C0026636
Disease or Syndrome
6.

Abnormality of the mouth

Congenital absence of or defects in structures of the mouth. [from MeSH]

MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
7.

Congenital abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
8.

Cleft secondary palate

MedGen UID:
1684713
Concept ID:
CN225918
Finding
9.

Blepharocheilodontic syndrome 1

The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010). [from OMIM]

MedGen UID:
1632198
Concept ID:
C4551988
Disease or Syndrome
10.

Abnormality of mouth shape

An abnormality of the outline, configuration, or contour of the mouth. [from HPO]

MedGen UID:
868992
Concept ID:
C4023407
Anatomical Abnormality
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